Variant #0000442978 (NC_000023.10:g.30686158T>C, GK(NM_001205019.1):c.182T>C)

Individual ID 00210408
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.30686158T>C
DNA change (hg38) g.30668041T>C
Published as -
ISCN -
DB-ID GK_000025
Variant remarks not in100 normal chromosomes
Reference PubMed: Sjarif 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GK NM_001205019.1 +/. 3 c.182T>C r.182u>c p.Leu61Pro



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211484 DNA SEQ - - GK 1 Johan den Dunnen